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Gamma-glutamylcysteine synthetase deficiency and hemolytic anemia
E Beutler, R Moroose, L Kramer, T Gelbart and L Forman
Department of Molecular and Experimental Medicine, Research Institute of
Scripps Clinic, La Jolla, CA 92037.
gamma-Glutamylcysteine synthetase is one of the enzymes of glutathione
(GSH) synthesis. A deficiency of this enzyme has been found only once
previously in humans: it was associated with spinocerebellar degeneration
and hemolytic anemia. We report the case of a woman, daughter of fifth
cousins, who was gamma-glutamylcysteine-synthetase- deficient. Modest
decreases in the amount of GSH in cultured lymphoblasts and fibroblasts
could be documented. The amount of residual enzyme was insufficient to
permit detailed studies of the characteristics of the mutant enzymes, but
no major abnormality in its Km for cysteine and glutamic acid or in its
heat stability were found. In contrast to the earlier report, the only
manifestation of the enzyme deficiency was hemolytic anemia. This leads us
to conclude that either the occurrence of neurologic symptoms in the other
reported family was a chance association or that the clinical expression of
this rare defect is pleomorphic.
Volume 75,
Issue 1,
pp. 271-273,
01/01/1990
Copyright © 1990 by The American Society of Hematology
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